ECHS1 Mutations Cause Combined Respiratory Chain Deficiency Resulting in Leigh Syndrome

Human Mutation - Tập 36 Số 2 - Trang 232-239 - 2015
Chika Sakai1, Seiji Yamaguchi2, Masayuki Sasaki3, Yusaku Miyamoto4, Yuichi Matsushima5,1, Yu-ichi Goto1
1Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
2Department of Pediatrics; Shimane University; Izumo Shimane Japan
3Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
4Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Kanagawa, Japan
5Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan

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Chang, 2013, ECHS1 interacts with STAT3 and negatively regulates STAT3 signaling, FEBS Lett, 587, 607, 10.1016/j.febslet.2013.02.005

Chen, 2003, Short-chain fatty acid inhibitors of histone deacetylases: promising anticancer therapeutics?, Curr Cancer Drug Targets, 3, 219, 10.2174/1568009033481994

Chol, 2003, The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency, J Med Genet, 40, 188, 10.1136/jmg.40.3.188

Claros, 1996, Computational method to predict mitochondrially imported proteins and their targeting sequences, Eur J Biochem, 241, 779, 10.1111/j.1432-1033.1996.00779.x

Corydon, 1996, Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase, Pediatr Res, 39, 1059, 10.1203/00006450-199606000-00021

Enns, 2000, Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, J Pediatr, 136, 251, 10.1016/S0022-3476(00)70111-9

Ensenauer, 2005, Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids, J Biol Chem, 280, 32309, 10.1074/jbc.M504460200

Frezza, 2007, Organelle isolation: functional mitochondria from mouse liver, muscle and cultured filroblasts, Nat Protoc, 2, 287, 10.1038/nprot.2006.478

Haack, 2010, Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency, Nat Genet, 42, 1131, 10.1038/ng.706

Heide, 2012, Complexome profiling identifies TMEM126B as a component of the mitochondrial complex I assembly complex, Cell Metab, 6, 538, 10.1016/j.cmet.2012.08.009

Hochstrasser, 1992, Human liver protein map: a reference database established by microsequencing and gel comparison, Electrophoresis, 13, 992, 10.1002/elps.11501301201

Ikeda, 1983, Separation and properties of five distinct acyl-CoA dehydrogenases from rat liver mitochondria, J Biol Chem, 258, 1066, 10.1016/S0021-9258(18)33160-0

Ikeda, 1985a, Mechanism of action of short-chain, medium chain and long-chain acyl-CoA dehydrogenases: direct evidence for carbanion formation as an intermediate step using enzyme-catalyzed C-2 proton/deuteron exchange in the absence of C-3 exchange, J Biol Chem, 260, 1326, 10.1016/S0021-9258(20)71246-9

Ikeda, 1985b, Spectroscopic analysis of the interaction of rat liver short chain, medium chain and long chain acyl-CoA dehydrogenases with acyl-CoA substrates, Biochemistry, 24, 7192, 10.1021/bi00346a027

Jethva, 2008, Short-chain acyl-coenzyme A dehydrogenase deficiency, Mol Genet Metab, 95, 195, 10.1016/j.ymgme.2008.09.007

Kamijo, 1993, Molecular cloning of the cDNAs for the subunits of rat mitochondrial fatty acid beta-oxidation multienzyme complex. Structural and functional relationships to other mitochondrial and peroxisomal beta-oxidation enzymes, J Biol Chem, 268, 26452, 10.1016/S0021-9258(19)74336-1

Kim, 1990, Use of the human elongation factor 1 alpha promoter as a versatile and efficient expression system, Gene, 91, 217, 10.1016/0378-1119(90)90091-5

Kompare, 2008, Mitochondrial fatty-acid oxidation disorders. Semin, Pediatr Neurol, 15, 140, 10.1016/j.spen.2008.05.008

Leigh, 1951, Subacute necrotizing encephalomyelopathy in an infant, J Neurol Neurosurg Psychiatr, 14, 216, 10.1136/jnnp.14.3.216

Lucas, 1975, Influence of glyoxylic acid on properties of isolated mitochondria, Biochimie, 57, 637, 10.1016/S0300-9084(75)80145-3

Matsunaga, 2005, Audiological features and mitochondrial DNA sequence in a large family carrying mitochondrial A1555G mutation without use of aminoglycoside, Ann Otol Rhinol Laryngol, 114, 153, 10.1177/000348940511400213

Morava, 2006, Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations, Am J Med Genet A, 140, 863, 10.1002/ajmg.a.31194

Narayan, 2012, Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase associates with a protein super-complex integrating multiple metabolic pathways, PLoS One, 7, e35048, 10.1371/journal.pone.0035048

Peters, 2014, ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism, Brain, 137, 2903, 10.1093/brain/awu216

Pougovkina, 2014, Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidation, Hum Mol Genet, 23, 3513, 10.1093/hmg/ddu059

Shimazaki, 2012, A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55), J Med Genet, 49, 777, 10.1136/jmedgenet-2012-101212

Spiekerkoetter, 2004, General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover, Pediatr Res, 55, 190, 10.1203/01.PDR.0000103931.80055.06

Steinman, 1975, Bovine liver crotonase (enoyl coenzyme A hydratase), Methods Enzymol, 35, 136, 10.1016/0076-6879(75)35149-5

Uchida, 1992, Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein, J Biol Chem, 267, 1034, 10.1016/S0021-9258(18)48391-3

Wang, 2010, Evidence for physical association of mitochondrial fatty acid oxidation and oxidative phosphorylation complexes, J Biol Chem, 285, 29834, 10.1074/jbc.M110.139493

Whitehouse, 1974, Mechanism of activation of pyruvate dehydrogenase by dichloroacetate and other halogenated carboxylic acids, Biochem J, 141, 761, 10.1042/bj1410761

Xiao, 2013, ECHS1 acts as a novel HBsAg-binding protein enhancing apoptosis through the mitochondrial pathway in HepG2 cells, Cancer Lett, 330, 67, 10.1016/j.canlet.2012.11.030

Zhang, 2012, Perspectives on: SGP symposium on mitochondrial physiology and medicine: mitochondrial proteome design: from molecular identity to pathophysiological regulation, J Gen Physiol, 139, 395, 10.1085/jgp.201210797